Canonical Allele Identifier: CA2684467896
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107696178_107696181del , CM000669.2:g.107696178_107696181del GRCh38
NC_000007.13:g.107336623_107336626del , CM000669.1:g.107336623_107336626del GRCh37
NC_000007.12:g.107123859_107123862del NCBI36
NG_008489.1:g.40544_40547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1544+139_1544+142del MANE Select ENSP00000494017.1:n.1544+139_1544+142del
ENST00000644846.1:c.255+139_255+142del
ENST00000265715.7:c.1544+139_1544+142del ENSP00000265715.3:n.1544+139_1544+142del
ENST00000477350.5:n.391+139_391+142del
ENST00000480841.5:n.393+139_393+142del
NM_000441.1:c.1544+139_1544+142del NP_000432.1:n.1544+139_1544+142del
XM_005250425.1:c.1544+139_1544+142del XP_005250482.1:n.1544+139_1544+142del
XM_005250425.2:c.1544+139_1544+142del XP_005250482.1:n.1544+139_1544+142del
XM_017012318.1:c.1466+139_1466+142del XP_016867807.1:n.1466+139_1466+142del
NM_000441.2:c.1544+139_1544+142del MANE Select NP_000432.1:n.1544+139_1544+142del